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L22 - Genetic Variance Genotype-phenotype correlation Dominance,…

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        So, Mendel’s principles alone don’t explain
        inheritance of all traits, & he knew it.
        
        Genes, therefore, control "traits" by altering the behaviour of phenotype expression
        
        Non-Mendelian Inheritance patterns
        
        The lethal yellow gene means the mice did not
        show the ratios predicted by Mendel. Thus,
        Mendel’s principles alone are not adequate to
        explain inheritance of all characteristics.
        It couldn’t really be THAT simple!
        Additional factors act at various loci & can alter
        the phenotypic ratios Mendel predicted
        
        Intermediate/Incomplete Dominance
        Combine to form completely new phenotypes
        
        Co-Expression/Co-Dominance
        show both dominant & recessive traits in phenotype
        
        Polygenic
        Require multiple genes to completely express the phenotype
        
        Intelligence
        
        Height
        
        Pleoitropy
        Single gene influences more than one trait
        
        Environemental Epigentic Factors
        Interplay between multiple genes and the environment that they exist in results in non-mendelian inhertance
        
        Height influenced by a poor diet
        
        Sex-Linked Inheritance Patterns
        Genes pertaining to X & Y
        
        Mendelian Inheritance Patterns
        
        True/Complete Dominance
        Follow simple dominant/recessive relationships.
        Where two alleles for a trait exist, if one trait is dominant and the other is recessive, the dominant is expressed preferentially to the recessive
        
        Dominant
        
        Homozygous
        
        Heterozygous
        
        For a Given Single Gene Dominant Disorder
        
        Heterozygous mutations are either inherited from an affected parent, or occur de novo.
        
        Dominant mutation only required on one copy of gene to cause disease which will either;
        
        Altered function mutations.
        
        Protein acquires a novel function.
        
        Loss of function
        
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        Recessive
        
        Homozygous
        
        For a Given Single Gene Recessive Disorder
        
        Homozygous or compound heterozygous mutations are either inherited or acquired de novo
        
        A compound heterozygous recessive disorder occurs when each allele carries different types of mutation (SNVs vs InDel) yet they both alter the true function of the gene
        
        Mutations on both copies of gene required to cause disease;
        
        Loss of function mutations. (e.g. loss of function for tumour suppressor genes)
        
        Protein absent or has reduced function
        
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